Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	788
Gene name	Solute carrier family 25 member 20
Gene symbol	SLC25A20
Synonyms (NCBI Gene)	CACCACT
Chromosome	3
Chromosome location	3p21.31
Summary	This gene product is one of several closely related mitochondrial-membrane carrier proteins that shuttle substrates between cytosol and the intramitochondrial matrix space. This protein mediates the transport of acylcarnitines into mitochondrial matrix fo

Show/Hide all (17)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28934589	T>C	Pathogenic	Missense variant, coding sequence variant
rs151340616	G>A	Pathogenic	Coding sequence variant, stop gained
rs541208710	A>C	Pathogenic	Intron variant
rs577331691	C>G	Pathogenic	Missense variant, coding sequence variant
rs587776759	->G	Pathogenic	Coding sequence variant, frameshift variant
rs587776760	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs587777286	C>T	Pathogenic	Stop gained, coding sequence variant
rs587777287	T>A,C	Pathogenic	Splice acceptor variant
rs753414360	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs756998699	G>A,C	Pathogenic	Stop gained, missense variant, coding sequence variant
rs757552268	C>-	Pathogenic	Splice donor variant, coding sequence variant
rs778220325	G>A	Pathogenic	Coding sequence variant, stop gained
rs1553684897	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1553686314	AGCACATCTTCTGGGTGTTTCTGTTGTAGTTTCTTCCCCAAACCAAACCCAAAGAAGCACACGGCAAACATGGGAGTGACCCCGATGATAGGGGCAGCCATTCCCCGATATAGCCCCGTGATGCCCTG>-	Pathogenic	Splice acceptor variant, splice donor variant, intron variant, coding sequence variant
rs1553686321	T>A	Pathogenic	Stop gained, coding sequence variant
rs1553686345	T>G	Pathogenic	Splice acceptor variant
rs1575989549	G>-	Pathogenic	Frameshift variant, coding sequence variant

201

Show/Hide all (201)

miRTarBase ID	miRNA	Experiments	Reference
MIRT622247	hsa-miR-3156-5p	HITS-CLIP	23824327
MIRT622246	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT622245	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT622244	hsa-miR-3658	HITS-CLIP	23824327
MIRT622243	hsa-miR-7856-5p	HITS-CLIP	23824327
MIRT622246	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT622245	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT622244	hsa-miR-3658	HITS-CLIP	23824327
MIRT622243	hsa-miR-7856-5p	HITS-CLIP	23824327
MIRT622246	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT622245	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT622244	hsa-miR-3658	HITS-CLIP	23824327
MIRT622243	hsa-miR-7856-5p	HITS-CLIP	23824327
MIRT622246	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT622245	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT622244	hsa-miR-3658	HITS-CLIP	23824327
MIRT622243	hsa-miR-7856-5p	HITS-CLIP	23824327
MIRT622246	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT622245	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT622244	hsa-miR-3658	HITS-CLIP	23824327
MIRT622243	hsa-miR-7856-5p	HITS-CLIP	23824327
MIRT622247	hsa-miR-3156-5p	HITS-CLIP	23824327
MIRT622246	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT622245	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT622244	hsa-miR-3658	HITS-CLIP	23824327
MIRT622243	hsa-miR-7856-5p	HITS-CLIP	23824327
MIRT622247	hsa-miR-3156-5p	HITS-CLIP	23824327
MIRT622246	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT622245	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT622244	hsa-miR-3658	HITS-CLIP	23824327
MIRT622243	hsa-miR-7856-5p	HITS-CLIP	23824327
MIRT622246	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT622245	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT622244	hsa-miR-3658	HITS-CLIP	23824327
MIRT622243	hsa-miR-7856-5p	HITS-CLIP	23824327
MIRT622247	hsa-miR-3156-5p	HITS-CLIP	23824327
MIRT622246	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT622245	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT622244	hsa-miR-3658	HITS-CLIP	23824327
MIRT622243	hsa-miR-7856-5p	HITS-CLIP	23824327
MIRT622247	hsa-miR-3156-5p	HITS-CLIP	23824327
MIRT622246	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT622245	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT622244	hsa-miR-3658	HITS-CLIP	23824327
MIRT622243	hsa-miR-7856-5p	HITS-CLIP	23824327
MIRT622246	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT622245	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT622244	hsa-miR-3658	HITS-CLIP	23824327
MIRT622243	hsa-miR-7856-5p	HITS-CLIP	23824327
MIRT622246	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT622245	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT622244	hsa-miR-3658	HITS-CLIP	23824327
MIRT622243	hsa-miR-7856-5p	HITS-CLIP	23824327
MIRT622246	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT622245	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT622244	hsa-miR-3658	HITS-CLIP	23824327
MIRT622243	hsa-miR-7856-5p	HITS-CLIP	23824327
MIRT622246	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT622245	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT622244	hsa-miR-3658	HITS-CLIP	23824327
MIRT622243	hsa-miR-7856-5p	HITS-CLIP	23824327
MIRT622247	hsa-miR-3156-5p	HITS-CLIP	23824327
MIRT622246	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT622245	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT622244	hsa-miR-3658	HITS-CLIP	23824327
MIRT622243	hsa-miR-7856-5p	HITS-CLIP	23824327
MIRT622247	hsa-miR-3156-5p	HITS-CLIP	23824327
MIRT622246	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT622245	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT622244	hsa-miR-3658	HITS-CLIP	23824327
MIRT622243	hsa-miR-7856-5p	HITS-CLIP	23824327
MIRT622246	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT622245	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT622244	hsa-miR-3658	HITS-CLIP	23824327
MIRT622243	hsa-miR-7856-5p	HITS-CLIP	23824327
MIRT622247	hsa-miR-3156-5p	HITS-CLIP	23824327
MIRT622246	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT622245	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT622244	hsa-miR-3658	HITS-CLIP	23824327
MIRT622243	hsa-miR-7856-5p	HITS-CLIP	23824327
MIRT1355578	hsa-miR-105	CLIP-seq
MIRT1355579	hsa-miR-1208	CLIP-seq
MIRT1355580	hsa-miR-1343	CLIP-seq
MIRT1355581	hsa-miR-3153	CLIP-seq
MIRT1355582	hsa-miR-4266	CLIP-seq
MIRT1355583	hsa-miR-4506	CLIP-seq
MIRT1355584	hsa-miR-4668-3p	CLIP-seq
MIRT1355585	hsa-miR-4695-5p	CLIP-seq
MIRT1355586	hsa-miR-4698	CLIP-seq
MIRT1355587	hsa-miR-4779	CLIP-seq
MIRT1355588	hsa-miR-4794	CLIP-seq
MIRT1355589	hsa-miR-515-5p	CLIP-seq
MIRT1355590	hsa-miR-548c-3p	CLIP-seq
MIRT1355591	hsa-miR-875-3p	CLIP-seq
MIRT1355592	hsa-miR-892a	CLIP-seq
MIRT2105300	hsa-miR-132	CLIP-seq
MIRT2105301	hsa-miR-212	CLIP-seq
MIRT2105302	hsa-miR-3614-5p	CLIP-seq
MIRT2105303	hsa-miR-3662	CLIP-seq
MIRT2105304	hsa-miR-425	CLIP-seq
MIRT2105305	hsa-miR-4436b-5p	CLIP-seq
MIRT2105306	hsa-miR-4520a-3p	CLIP-seq
MIRT2105307	hsa-miR-4520b-3p	CLIP-seq
MIRT1355586	hsa-miR-4698	CLIP-seq
MIRT2105308	hsa-miR-4789-5p	CLIP-seq
MIRT2105309	hsa-miR-541	CLIP-seq
MIRT2105310	hsa-miR-603	CLIP-seq
MIRT2105311	hsa-miR-642b	CLIP-seq
MIRT2105312	hsa-miR-654-5p	CLIP-seq
MIRT2105313	hsa-miR-890	CLIP-seq
MIRT2329882	hsa-miR-4530	CLIP-seq
MIRT1355579	hsa-miR-1208	CLIP-seq
MIRT2624082	hsa-miR-1229	CLIP-seq
MIRT2624083	hsa-miR-124	CLIP-seq
MIRT2624084	hsa-miR-1265	CLIP-seq
MIRT2624085	hsa-miR-127-3p	CLIP-seq
MIRT2624086	hsa-miR-1286	CLIP-seq
MIRT2105300	hsa-miR-132	CLIP-seq
MIRT2624087	hsa-miR-145	CLIP-seq
MIRT2105301	hsa-miR-212	CLIP-seq
MIRT2624088	hsa-miR-3127-3p	CLIP-seq
MIRT2624089	hsa-miR-3145-5p	CLIP-seq
MIRT1355581	hsa-miR-3153	CLIP-seq
MIRT2624090	hsa-miR-3157-3p	CLIP-seq
MIRT2624091	hsa-miR-3168	CLIP-seq
MIRT2624092	hsa-miR-3199	CLIP-seq
MIRT2624093	hsa-miR-3647-3p	CLIP-seq
MIRT2624094	hsa-miR-3691-3p	CLIP-seq
MIRT2624095	hsa-miR-3714	CLIP-seq
MIRT2624096	hsa-miR-3909	CLIP-seq
MIRT2624097	hsa-miR-3910	CLIP-seq
MIRT2624098	hsa-miR-3925-3p	CLIP-seq
MIRT1355582	hsa-miR-4266	CLIP-seq
MIRT2624099	hsa-miR-4290	CLIP-seq
MIRT2624100	hsa-miR-4328	CLIP-seq
MIRT2624101	hsa-miR-4695-3p	CLIP-seq
MIRT1355585	hsa-miR-4695-5p	CLIP-seq
MIRT2624102	hsa-miR-4709-5p	CLIP-seq
MIRT2624103	hsa-miR-4722-5p	CLIP-seq
MIRT1355587	hsa-miR-4779	CLIP-seq
MIRT2105308	hsa-miR-4789-5p	CLIP-seq
MIRT2624104	hsa-miR-506	CLIP-seq
MIRT2624105	hsa-miR-508-5p	CLIP-seq
MIRT1355589	hsa-miR-515-5p	CLIP-seq
MIRT2624106	hsa-miR-602	CLIP-seq
MIRT2105310	hsa-miR-603	CLIP-seq
MIRT2624107	hsa-miR-616	CLIP-seq
MIRT2105311	hsa-miR-642b	CLIP-seq
MIRT2624108	hsa-miR-874	CLIP-seq
MIRT1355592	hsa-miR-892a	CLIP-seq
MIRT1355579	hsa-miR-1208	CLIP-seq
MIRT2624082	hsa-miR-1229	CLIP-seq
MIRT2690991	hsa-miR-1237	CLIP-seq
MIRT2624083	hsa-miR-124	CLIP-seq
MIRT2690992	hsa-miR-1248	CLIP-seq
MIRT2624084	hsa-miR-1265	CLIP-seq
MIRT2624085	hsa-miR-127-3p	CLIP-seq
MIRT2624086	hsa-miR-1286	CLIP-seq
MIRT2690993	hsa-miR-1299	CLIP-seq
MIRT2105300	hsa-miR-132	CLIP-seq
MIRT2624087	hsa-miR-145	CLIP-seq
MIRT2690994	hsa-miR-196a	CLIP-seq
MIRT2690995	hsa-miR-196b	CLIP-seq
MIRT2105301	hsa-miR-212	CLIP-seq
MIRT2690996	hsa-miR-3064-3p	CLIP-seq
MIRT2690997	hsa-miR-3126-3p	CLIP-seq
MIRT2624088	hsa-miR-3127-3p	CLIP-seq
MIRT2624089	hsa-miR-3145-5p	CLIP-seq
MIRT1355581	hsa-miR-3153	CLIP-seq
MIRT2624090	hsa-miR-3157-3p	CLIP-seq
MIRT2624091	hsa-miR-3168	CLIP-seq
MIRT2624092	hsa-miR-3199	CLIP-seq
MIRT2624093	hsa-miR-3647-3p	CLIP-seq
MIRT2690998	hsa-miR-3663-5p	CLIP-seq
MIRT2624094	hsa-miR-3691-3p	CLIP-seq
MIRT2624095	hsa-miR-3714	CLIP-seq
MIRT2624096	hsa-miR-3909	CLIP-seq
MIRT2624097	hsa-miR-3910	CLIP-seq
MIRT2624098	hsa-miR-3925-3p	CLIP-seq
MIRT1355582	hsa-miR-4266	CLIP-seq
MIRT2690999	hsa-miR-4279	CLIP-seq
MIRT2624099	hsa-miR-4290	CLIP-seq
MIRT2624100	hsa-miR-4328	CLIP-seq
MIRT2691000	hsa-miR-4527	CLIP-seq
MIRT2624101	hsa-miR-4695-3p	CLIP-seq
MIRT1355585	hsa-miR-4695-5p	CLIP-seq
MIRT2624102	hsa-miR-4709-5p	CLIP-seq
MIRT2624103	hsa-miR-4722-5p	CLIP-seq
MIRT1355587	hsa-miR-4779	CLIP-seq
MIRT2105308	hsa-miR-4789-5p	CLIP-seq
MIRT2624104	hsa-miR-506	CLIP-seq
MIRT2624105	hsa-miR-508-5p	CLIP-seq
MIRT1355589	hsa-miR-515-5p	CLIP-seq
MIRT2624106	hsa-miR-602	CLIP-seq
MIRT2105310	hsa-miR-603	CLIP-seq
MIRT2624107	hsa-miR-616	CLIP-seq
MIRT2105311	hsa-miR-642b	CLIP-seq
MIRT2691001	hsa-miR-671-5p	CLIP-seq
MIRT2624108	hsa-miR-874	CLIP-seq
MIRT1355591	hsa-miR-875-3p	CLIP-seq
MIRT1355592	hsa-miR-892a	CLIP-seq

Show/Hide all (2)

Transcription factor	Regulation	Reference
PPARA	Unknown	19748481
SP1	Unknown	21130740

Show/Hide all (21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001701	Process	In utero embryonic development	IEA
GO:0005476	Function	Carnitine:O-acyl-L-carnitine antiporter activity	EXP	9399886
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005740	Component	Mitochondrial envelope	IBA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0005829	Component	Cytosol	IDA
GO:0006839	Process	Mitochondrial transport	IBA
GO:0006853	Process	Carnitine shuttle	IEA
GO:0006853	Process	Carnitine shuttle	TAS
GO:0006869	Process	Lipid transport	IEA
GO:0015227	Function	O-acyl-L-carnitine transmembrane transporter activity	IBA
GO:0015227	Function	O-acyl-L-carnitine transmembrane transporter activity	ISS
GO:0016020	Component	Membrane	IEA
GO:1902603	Process	Carnitine transmembrane transport	IBA
GO:1902603	Process	Carnitine transmembrane transport	ISS
GO:1902616	Process	O-acyl-L-carnitine transmembrane transport	IEA

MIM	HGNC	e!Ensembl
613698	1421	ENSG00000178537

O43772

Protein name

Mitochondrial carnitine/acylcarnitine carrier protein (Carnitine/acylcarnitine translocase) (CAC) (CACT) (Solute carrier family 25 member 20)

Protein function

Mediates the electroneutral exchange of acylcarnitines (O-acyl-(R)-carnitine or L-acylcarnitine) of different acyl chain lengths (ranging from O-acetyl-(R)-carnitine to long-chain O-acyl-(R)-carnitines) with free carnitine ((R)-carnitine or L-ca

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00153	Mito_carr	6 → 104	Mitochondrial carrier protein	Family
PF00153	Mito_carr	106 → 201	Mitochondrial carrier protein	Family
PF00153	Mito_carr	205 → 298	Mitochondrial carrier protein	Family

Sequence

MADQPKPISPLKNLLAGGFGGVCLVFVGHPLDTVKVRLQTQPPSLPGQPPMYSGTFDCFR
KTLFREGITGLYRGMAAPIIGVTPMFAVCFFGFGLGKKLQQKHPEDVLSYPQLFAAGMLS
GVFTTGIMTPGERIKCLLQIQASSGESKYTGTLDCAKKLYQEFGIRGIYKGTVLTLMRDV
PASGMYFMTYEWLKNIFTPEGKRVSELSAPRILVAGGIAGIFNWAVAIPPDVLKSRFQTA
PPGKYPNGFRDVLRELIRDEGVTSLYKGFNAVMIRAFPANAACFLGFEVAMKFLNWATPN
L

Sequence length

301

Interactions

View interactions

	KEGG		Reactome
	Thermogenesis		Carnitine metabolism

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Carnitine acylcarnitine translocase deficiency	Likely pathogenic; Pathogenic	rs2083814457, rs970037429, rs997204610, rs2083881207, rs587777286, rs587777287, rs754563147, rs2106672523, rs2106637622, rs1330578621, rs953809517, rs2471005012, rs756998699, rs2471004624, rs587776759 View all (47 more)	RCV003849381 RCV001378280 RCV001733365 RCV003472851 RCV000114402 View all (58 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SLC25A20-related disorder	Pathogenic; Likely pathogenic	rs541208710, rs2471021176, rs757552268, rs748394731, rs147540030	RCV004757104 RCV004757591 RCV003972463 RCV003945915 RCV004757381	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
AUTISM SPECTRUM DISORDER	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY	—	CTD, ClinGen, Disgenet, HPO, Orphanet CTD, ClinGen, Disgenet, HPO, Orphanet CTD, ClinGen, Disgenet, HPO, Orphanet CTD, ClinGen, Disgenet, HPO, Orphanet CTD, ClinGen, Disgenet, HPO, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (99)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	28671672		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	28647689, 29406041, 30773088		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	29034996		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	28647689, 29406041, 30773088		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	27332823		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	27332823	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrioventricular Block	Atrioventricular block	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Behavioral variant of frontotemporal dementia	Behavioral Variant Of Frontotemporal Dementia	BEFREE	19683260		★★★★★ ★☆☆☆☆ Found in Text Mining only
beta Thalassemia	beta Thalassemia	BEFREE	8288615		★★★★★ ★☆☆☆☆ Found in Text Mining only
beta^+^ Thalassemia	beta Thalassemia	BEFREE	8288615		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	39457408	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	29678143, 29748526, 30696608		★★★★★ ★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	8221626		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	33824298	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	30176945	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	33824298	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma in situ of uterine cervix	Cervical Intraepithelial Neoplasia	BEFREE	31027119		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	28283309, 29254675, 29482886		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carnitine Acylcarnitine Translocase Deficiency	Carnitine acetyltransferase deficiency	Pubtator	35181030, 37115522	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Carnitine palmitoyl transferase 2 deficiency	Carnitine palmitoyl transferase deficiency	BEFREE	10331465, 16919490		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carnitine palmitoyl transferase 2 deficiency	Carnitine palmitoyltransferase deficiency	Pubtator	34626609	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carnitine Palmitoyltransferase II Deficiency Infantile	Carnitine palmitoyltransferase deficiency	Pubtator	37115522	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carnitine-Acylcarnitine Translocase Deficiency	Carnitine-Acylcarnitine Translocase Deficiency	CLINVAR_DG	10697964, 11350184, 11592821, 12559850, 16919490, 17277394, 24088670, 25459972, 25614308, 26238931, 27066551		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carnitine-Acylcarnitine Translocase Deficiency	Carnitine-Acylcarnitine Translocase Deficiency	BEFREE	11162577, 15159657, 15365988, 16919490, 24088670, 25459972, 31108048		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carnitine-Acylcarnitine Translocase Deficiency	Carnitine-Acylcarnitine Translocase Deficiency	CLINGEN_DG	11162577, 11350184, 11592821, 12559850, 15365988, 21605995, 9399886, 9686371, 9731180		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carnitine-Acylcarnitine Translocase Deficiency	Carnitine-Acylcarnitine Translocase Deficiency	UNIPROT_DG	12859414, 15057979, 15365988		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carnitine-Acylcarnitine Translocase Deficiency	Carnitine-Acylcarnitine Translocase Deficiency	GENOMICS_ENGLAND_DG	27604308, 9399886, 9686371		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carnitine-Acylcarnitine Translocase Deficiency	Carnitine-Acylcarnitine Translocase Deficiency	ORPHANET_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carnitine-Acylcarnitine Translocase Deficiency	Carnitine-Acylcarnitine Translocase Deficiency	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carnitine-acylcarnitine translocase deficiency	Carnitine-Acylcarnitine Translocase Deficiency	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	31027119		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	31768590		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	30385787		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	27063727		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	30841568	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	17903303, 30696608, 30879377		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	17903303, 19578791, 30119831, 30696608, 30879377		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	17903303, 24534453, 30696608, 30879377		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	27063727		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cytochrome-c Oxidase Deficiency	Cytochrome-C Oxidase Deficiency	BEFREE	10331465		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	29254675		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	27384043		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	30350881	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	27384043		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	31378464	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	11796176		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	10989952, 31378464		★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	12801121		★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	9809981		★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	19683260	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease	Glycogen Storage Disease	BEFREE	10331465		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hermanski-Pudlak Syndrome	Hermansky-Pudlak Syndrome	BEFREE	19133158		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism, Secondary	Hyperparathyroidism	BEFREE	31770758		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	19578791		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Inborn Errors of Metabolism	Inborn Errors Of Metabolism	BEFREE	12801121		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	30687760		★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	11705857		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	8721685		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	30176945	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29678143, 29748526, 30696608		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	9809981		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	28671672		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21882256, 28453760, 30954025		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	9809981		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	29254675		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	29254675		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	10331465		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Acyl Coenzyme A Dehydrogenase Deficiency	Multiple Acyl-CoA Dehydrogenase Deficiency	BEFREE	30401918		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	30352019		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	27838131		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	9659583		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	31768590		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	31199560	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peroxisome biogenesis disorders	Zellweger Syndrome	BEFREE	18470630		★★★★★ ★☆☆☆☆ Found in Text Mining only
Phobic anxiety disorder	Phobic Anxiety Disorder	BEFREE	21295349		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	BEFREE	22052707		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	28671672		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	26123401		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatic Heart Disease	Rheumatic Heart Disease	BEFREE	19616328		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	15450681		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	27384043		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	25896907		★★★★★ ★☆☆☆☆ Found in Text Mining only
ST segment elevation myocardial infarction	ST Segment Elevation Myocardial Infarction	BEFREE	24349233		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sudden episodic apnea	Sudden episodic apnea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tachycardia, Ventricular	Ventricular tachycardia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	BEFREE	8020137		★★★★★ ★☆☆☆☆ Found in Text Mining only
Trifunctional Protein Deficiency With Myopathy And Neuropathy	Mitochondrial trifunctional protein deficiency	BEFREE	10331465		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	27063727, 28453760, 30954025		★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	27189278	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular hypertrophy	Ventricular hypertrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Very long chain acyl-CoA dehydrogenase deficiency	Acyl CoA Dehydrogenase Deficiency	BEFREE	30428868		★★★★★ ★☆☆☆☆ Found in Text Mining only
Wiskott-Aldrich Syndrome	Wiskott-Aldrich Syndrome	BEFREE	18162713		★★★★★ ★☆☆☆☆ Found in Text Mining only

SLC25A20 (solute carrier family 25 member 20)